RESUMO
Reye syndrome resembles disorders of fatty acid metabolism. Analysis of serum free fatty acids from 18 patients with Reye syndrome revealed that dicarboxylic acids comprise as much as 55% (range 4% to 55%) of the patients' total free fatty acids; both medium- (6 to 12 carbon lengths) and long-chain (14 to 18 carbon lengths) dicarboxylic acids were identified. Long-chain dicarboxylic acids were not found in any control samples, whereas 86% +/- 4% of the serum dicarboxylic acids were long chain in 10 patients with Reye syndrome in state 3 to 4 coma and 31% +/- 8% in eight patients with a milder illness. The serum concentration of dicarboxylic acids correlated with the clinical state (P less than 0.001) and with the elevation in blood ammonia concentration (r2 = 0.8767). No long-chain dicarboxylic acids were found in the urine. The dicarboxylic acidemia in Reye syndrome may be secondary to the general mitochondrial dysfunction or could indicate that an insult to fatty acid metabolism or the stimulation of omega-oxidation is important in the pathogenesis of the illness. Measurement of serum dicarboxylic acids, especially long chain, may be important in assessing Reye syndrome and may prove useful in distinguishing this from other diseases.
Assuntos
Ácidos Dicarboxílicos/sangue , Síndrome de Reye/sangue , Criança , Ácidos Graxos não Esterificados/sangue , Feminino , Humanos , MasculinoRESUMO
Two infants have been studied with glutaric aciduria Type II. The clinical presentation was of an overwhelming illness very early in life; both infants died in the neonatal period. One had dysmorphic features. An acrid odor may be a clue to the diagnosis. Neonatal acidosis, hypoglycemia, and hyperammonemia are characteristic. Organic acid analysis revealed massive lactic aciduria and glutaric aciduria. A variety of other dicarboxylic acids and hydroxy acids and amino acids were found in elevated amounts in body fluids, along with elevated concentrations of butyric, isobutyric, 2-methylbutyric, and isovaleric acids. The pattern of metabolites accumulated is consistent with deficient activity of a number of acyl-CoA dehydrogenases.